Vascular and myofibrillar lesions in acute myoglobinuria associated with carnitine-palmityl-transferase deficiency.

A case of severe exercise-induced myoglobinuria in a 14-year-old boy suffering from a carnitine-palmityl-transferase (CPT) defect is reported. Biopsies of the forearm muscle were examined using light and electron microscopy in the acute and recovery phases of the illness. The first biopsy showed the presence of scattered foci of necrosis where necrotic fibres with occasional disruptions of the basal lamina were seen around injured capillaries. Various degrees of damage and different stages of evolution were found in these foci, which also contained regenerating muscle fibres. In the second biopsy, performed 2 weeks later, most of the fibres displayed a normal structure. Necrosis was no longer present. However, in some areas perivascular fibrosis was prominent, the fibres were small and irregularly shaped, and their nuclei often centrally located. These data strongly suggest that circulatory disorders and ischaemia, brought about by premature acute metabolic imbalance, could be involved in the development of exercise-induced myolysis observed in CPT deficiency. The risk of fibrous cardiomyopathy in these patients is pointed out.